Details for SPEG:c.9575C>A, p.Thr3192Asn

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
220356946219492224
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE SPEG
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_005876.4
CDNA CHANGE c.9575C>A
PROTEIN CHANGE p.Thr3192Asn
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign2.87811Disease causing
DBSNP ID rs534715710
1 combination linked to SPEG:c.9575C>A, p.Thr3192Asn OLI799
1 disease linked to SPEG:c.9575C>A, p.Thr3192Asn Arthrogryposis syndrome
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